Canonical Allele Identifier: CA13161337

Gene: ZMIZ1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.79081391T>C , CM000672.2:g.79081391T>C	GRCh38
NC_000010.10:g.80841148T>C , CM000672.1:g.80841148T>C	GRCh37
NC_000010.9:g.80511154T>C	NCBI36
NG_028289.1:g.17357T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020338.4:c.-337+12121T>C MANE Select	NP_065071.1:n.-337+12121T>C
ENST00000334512.10:c.-337+12121T>C MANE Select	ENSP00000334474.5:n.-337+12121T>C
NM_020338.3:c.-337+12121T>C	NP_065071.1:n.-337+12121T>C
ENST00000334512.9:c.-337+12121T>C	ENSP00000334474.5:n.-337+12121T>C
XM_005269988.2:c.-337+12121T>C	XP_005270045.1:n.-337+12121T>C
XM_005269988.3:c.-337+12121T>C	XP_005270045.1:n.-337+12121T>C
XM_006717923.2:c.-334+12121T>C	XP_006717986.1:n.-334+12121T>C
XM_006717923.3:c.-334+12121T>C	XP_006717986.1:n.-334+12121T>C
XM_006717924.2:c.-256+12121T>C	XP_006717987.1:n.-256+12121T>C
XM_006717924.3:c.-256+12121T>C	XP_006717987.1:n.-256+12121T>C
XM_006717925.2:c.-337+12121T>C	XP_006717988.1:n.-337+12121T>C
XM_006717925.3:c.-337+12121T>C	XP_006717988.1:n.-337+12121T>C